Genes in panel
Regions in panel
Prev Next

Intellectual disability

Gene: SLC30A9

Red List (low evidence)

SLC30A9 (solute carrier family 30 member 9)
EnsemblGeneIds (GRCh38): ENSG00000014824
EnsemblGeneIds (GRCh37): ENSG00000014824
OMIM: 604604, Gene2Phenotype
SLC30A9 is in 1 panel

1 review

Sarah Leigh (Genomics England Curator)

Red List (low evidence)

Associated with phenotype in OMIM, not in G2P. At one variant reported in a large Bedouin tribe with a complex phenotype, including intellectual disability, muscle weakness, oculomotor apraxia, and nephropathy in early childhood
Created: 5 Sep 2017, 9:48 a.m.

Mode of inheritance
BIALLELIC, autosomal or pseudoautosomal

Phenotypes
?Birk-Landau-Perez syndrome 617595

Publications

Details

Mode of Inheritance
BIALLELIC, autosomal or pseudoautosomal
Sources
  • Literature
Phenotypes
  • ?Birk-Landau-Perez syndrome 617595
OMIM
604604
Clinvar variants
Variants in SLC30A9
Penetrance
Complete
Publications
Panels with this gene

History Filter Activity

12 Mar 2018, Gel status: 1

Panel promoted to version 2.0

Ellen McDonagh (Genomics England Curator)

12.03.2018: Due to major updates completed (Phase 1, 2 and 3), this panel was promoted to Version 2 in order to reflect the major updates since November 2017 which have resulted in reviews for 836 genes added by Genomics England Curators and the Clinical Team, 130 new Green genes added to the interpretation pipeline (from 751 to 881 Green genes), and the gene total has increased from 1879 to 1927.

5 Sep 2017, Gel status: 0

Created

Sarah Leigh (Genomics England Curator)

SLC30A9 was created by sleigh

5 Sep 2017, Gel status: 0

Added New Source

Sarah Leigh (Genomics England Curator)

SLC30A9 was added to Intellectual disabilitypanel. Sources: Literature